Variant report

Variant	nsv875546
Chromosome Location	chr2:186756348-186892254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:433)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:186855637-186856004	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:186853506-186853842	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:186766781-186767039	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:186756102-186757040	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:186835223-186835544	HepG2	liver:	n/a	n/a
6	BACH1	chr2:186855743-186855846	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr2:186775907-186775908	GM12878	blood:	n/a	n/a
8	CBX3	chr2:186836912-186837170	K562	blood:	n/a	n/a
9	CCNT2	chr2:186798987-186799212	K562	blood:	n/a	n/a
10	CEBPB	chr2:186819161-186819361	K562	blood:	n/a	chr2:186819279-186819290
11	CEBPB	chr2:186886764-186886992	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:186828874-186829177	A549	lung:	n/a	chr2:186829026-186829037
13	CEBPB	chr2:186799069-186799271	HepG2	liver:	n/a	chr2:186799116-186799125 chr2:186799114-186799125 chr2:186799116-186799127
14	CEBPB	chr2:186775761-186775821	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:186888229-186888431	HepG2	liver:	n/a	chr2:186888282-186888293 chr2:186888300-186888311
16	CEBPB	chr2:186863427-186863776	IMR90	lung:	n/a	chr2:186863590-186863601
17	CEBPB	chr2:186881632-186881878	A549	lung:	n/a	chr2:186881764-186881775
18	CEBPB	chr2:186886854-186887053	A549	lung:	n/a	n/a
19	CEBPB	chr2:186888225-186888463	A549	lung:	n/a	chr2:186888282-186888293 chr2:186888300-186888311
20	CEBPB	chr2:186863413-186863783	HepG2	liver:	n/a	chr2:186863590-186863601
21	CEBPB	chr2:186828867-186829198	HepG2	liver:	n/a	chr2:186829026-186829037
22	CEBPB	chr2:186756211-186756916	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:186843810-186844163	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr2:186863425-186863774	A549	lung:	n/a	chr2:186863590-186863601
25	CEBPB	chr2:186819132-186819491	HepG2	liver:	n/a	chr2:186819279-186819290
26	CEBPB	chr2:186861384-186861537	HepG2	liver:	n/a	chr2:186861485-186861496
27	CEBPB	chr2:186863446-186863745	Hela-S3	cervix:	n/a	chr2:186863590-186863601
28	CEBPB	chr2:186816833-186817243	Hela-S3	cervix:	n/a	chr2:186817033-186817046
29	CEBPB	chr2:186819116-186819567	Hela-S3	cervix:	n/a	chr2:186819279-186819290
30	CEBPB	chr2:186819149-186819471	A549	lung:	n/a	chr2:186819279-186819290
31	CEBPB	chr2:186828894-186829050	K562	blood:	n/a	chr2:186829026-186829037
32	CEBPB	chr2:186812025-186812311	HepG2	liver:	n/a	chr2:186812055-186812066
33	CEBPB	chr2:186881616-186881820	HepG2	liver:	n/a	chr2:186881764-186881775
34	CEBPB	chr2:186853669-186853919	HepG2	liver:	n/a	n/a
35	CHD2	chr2:186874059-186874362	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr2:186844560-186844710	HEK293	kidney:	n/a	n/a
37	CTCF	chr2:186819980-186820130	HMEC	breast:	n/a	n/a
38	CTCF	chr2:186844598-186844720	Gliobla	brain:	n/a	n/a
39	CTCF	chr2:186844540-186844690	RPTEC	kidney:	n/a	n/a
40	CTCF	chr2:186844600-186844750	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr2:186844620-186844718	GM19238	blood:	n/a	n/a
42	CTCF	chr2:186844561-186844776	NHEK	skin:	n/a	n/a
43	CTCF	chr2:186844606-186844734	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr2:186839020-186839170	NB4	blood:	n/a	n/a
45	CTCF	chr2:186844636-186844720	HepG2	liver:	n/a	n/a
46	CTCF	chr2:186797840-186797990	HRE	kidney:	n/a	n/a
47	CTCF	chr2:186819849-186819999	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:186853842-186853864	GM10248	blood:	n/a	n/a
49	CTCF	chr2:186802730-186802774	GM20000	blood:	n/a	n/a
50	CTCF	chr2:186844620-186844770	HEEpiC	esophagus:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
2	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:
3	chr2:186778448..186780007-chr2:186782910..186785814,2	K562	blood:
4	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
5	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:
6	chr2:186771348..186773239-chr22:46970196..46972979,2	MCF-7	breast:
7	chr2:186844422..186846233-chr2:187042627..187045441,2	K562	blood:
8	chr17:57913762..57915412-chr2:186861621..186864023,2	MCF-7	breast:
9	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:
10	chr2:186861297..186864828-chr2:186866334..186869154,3	K562	blood:
11	chr2:186778448..186780007-chr2:186782910..186785814,2	K562	blood:
12	chr2:186882755..186884529-chr2:186886544..186888768,2	K562	blood:
13	chr2:186807275..186808106-chr7:110453455..110454048,2	HCT-116	colon:
14	chr2:186760390..186763157-chr2:186764375..186766387,2	K562	blood:
15	chr2:186882755..186884529-chr2:186886544..186888768,2	K562	blood:
16	chr2:186760390..186763157-chr2:186764375..186766387,2	K562	blood:
17	chr2:186861297..186864828-chr2:186866334..186869154,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-4	chr2:186817485-186817647	XLOC_002427
2	lnc-ZSWIM2-11	chr2:186821314-186821790	NONHSAT075979
3	lnc-ZSWIM2-13	chr2:186799635-186800049	NONHSAT075976
4	lnc-ZSWIM2-4	chr2:186815194-186815488	XLOC_002427
5	lnc-ZSWIM2-12	chr2:186800286-186800551	NONHSAT075977

No data

Variant related genes	Relation type
RPL21P32	TF binding region
ENSG00000062716	chromatin interactions
ENSG00000075240	chromatin interactions

Extended variants
information (count: 3805 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:3805 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10931206	chr2:186756348-186756349	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190269997	chr2:186756380-186756381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576905910	chr2:186756397-186756398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534552657	chr2:186756436-186756437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182495687	chr2:186756483-186756484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574753622	chr2:186756562-186756563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373438046	chr2:186756570-186756571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144945933	chr2:186756574-186756575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186171836	chr2:186756690-186756691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190494588	chr2:186756736-186756737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564186142	chr2:186756778-186756779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151248992	chr2:186756866-186756867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546547915	chr2:186756921-186756922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562057468	chr2:186756969-186756970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529529870	chr2:186756989-186756990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7573074	chr2:186756991-186756992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs7572909	chr2:186757002-186757003	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs7587008	chr2:186757055-186757056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs552306987	chr2:186757061-186757062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184180150	chr2:186757098-186757099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534620712	chr2:186757099-186757100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552977133	chr2:186757102-186757103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568392883	chr2:186757104-186757105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542421507	chr2:186757150-186757151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535373389	chr2:186757180-186757181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188683462	chr2:186757349-186757350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140586273	chr2:186757380-186757381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150478664	chr2:186757413-186757414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527419801	chr2:186757459-186757460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114719064	chr2:186757524-186757525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192807171	chr2:186757526-186757527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540251189	chr2:186757597-186757598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561722704	chr2:186757598-186757599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13394632	chr2:186757633-186757634	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544566244	chr2:186757661-186757662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563152986	chr2:186757695-186757696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143989095	chr2:186757773-186757774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551972615	chr2:186757841-186757842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570585819	chr2:186757980-186757981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76276172	chr2:186757985-186757986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35986831	chr2:186757994-186757995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567955468	chr2:186758008-186758009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117368424	chr2:186758038-186758039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77033537	chr2:186758052-186758053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569092953	chr2:186758053-186758054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539271982	chr2:186758056-186758057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377391838	chr2:186758101-186758102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557498627	chr2:186758214-186758215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570684314	chr2:186758262-186758263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146847407	chr2:186758268-186758269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186716800-186767200	Weak transcription	Ovary	ovary
2	chr2:186745600-186756600	Weak transcription	Left Ventricle	heart
3	chr2:186755200-186757800	Enhancers	HepG2	liver
4	chr2:186755400-186759600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:186756200-186758600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:186756600-186756800	Enhancers	Left Ventricle	heart
7	chr2:186756600-186757600	Enhancers	HSMMtube	muscle
8	chr2:186756800-186757000	Weak transcription	Left Ventricle	heart
9	chr2:186757200-186757800	Enhancers	Fetal Heart	heart
10	chr2:186757800-186760800	Weak transcription	HepG2	liver
11	chr2:186760800-186761600	Enhancers	HepG2	liver
12	chr2:186764200-186764800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:186764400-186764600	Enhancers	Psoas Muscle	Psoas
14	chr2:186764400-186764800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:186764600-186767600	Weak transcription	Psoas Muscle	Psoas
16	chr2:186764800-186770000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:186765400-186765800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:186765400-186766200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:186765400-186766200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:186767600-186767800	Enhancers	Psoas Muscle	Psoas
21	chr2:186767600-186768000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:186769800-186770200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:186770000-186770200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:186770000-186770400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:186784200-186809400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:186785600-186786200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:186785600-186786400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr2:186785600-186786400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:186785800-186786200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:186785800-186786400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:186786400-186789400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:186789400-186789800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:186791400-186791600	ZNF genes & repeats	Pancreas	Pancrea
34	chr2:186791600-186810000	Weak transcription	Pancreas	Pancrea
35	chr2:186806600-186807600	Weak transcription	Left Ventricle	heart
36	chr2:186806800-186809400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:186807200-186810400	ZNF genes & repeats	Liver	Liver
38	chr2:186807600-186809000	ZNF genes & repeats	Left Ventricle	heart
39	chr2:186808200-186808400	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr2:186808600-186809000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:186808800-186809200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
42	chr2:186808800-186809600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:186809000-186815200	Weak transcription	Left Ventricle	heart
44	chr2:186809200-186813200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:186809400-186809800	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr2:186809400-186810200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:186809600-186810400	Weak transcription	Adipose Nuclei	Adipose
48	chr2:186809800-186816800	Weak transcription	Fetal Intestine Large	intestine
49	chr2:186810000-186810200	ZNF genes & repeats	Ovary	ovary
50	chr2:186810000-186810200	ZNF genes & repeats	Pancreas	Pancrea

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